Literature DB >> 13716617

The genetic mechanism of galactosaemia.

K HUGH-JONES, A L NEWCOMB, D Y HSIA.   

Abstract

Keywords:  GALACTOSE/blood

Mesh：

Substances：

Year:  1960        PMID： 13716617      PMCID： PMC2012648          DOI： 10.1136/adc.35.184.521

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  55 in total

1.  The heterozygous carrier in galactosaemia.

Authors:  D Y HSIA; I HUANG; S G DRISCOLL
Journal:  Nature       Date:  1958-11-15       Impact factor: 49.962

2.  [Galactosemia with a discussion of the peculiarity of galactose metabolism].

Authors:  K SCHREIER; R ACKER; H HENCKEL
Journal:  Z Kinderheilkd       Date:  1957

3.  Congenital galactosemia.

Authors:  C E BENNETT
Journal:  U S Armed Forces Med J       Date:  1958-01

4.  Case of galactosemia identified in a four day old infant by paper chromatographic technic.

Authors:  J D LOCKHART; E ROBOZ
Journal:  Pediatrics       Date:  1954-03       Impact factor: 7.124

5.  Diagnosis and treatment of galactosaemia.

Authors:  F P HUDSON; J T IRELAND; B G OCKENDEN; R H WHITE-JONES
Journal:  Br Med J       Date:  1954-01-30

6.  Human galactosemia cataract; report of a case.

Authors:  J H ENNS
Journal:  Am J Ophthalmol       Date:  1951-09       Impact factor: 5.258

7.  Galactose cataractogenesis; review of literature and case report.

Authors:  C REITER; M A LASKY
Journal:  Am J Ophthalmol       Date:  1952-01       Impact factor: 5.258

8.  Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases.

Authors:  E H TOWNSEND; H H MASON; P S STRONG
Journal:  Pediatrics       Date:  1951-06       Impact factor: 7.124

9.  Galactosemia in infancy report of a case with observation for 24 months.

Authors:  J W DuSHANE; E E HARTMAN
Journal:  Pediatrics       Date:  1951-05       Impact factor: 7.124

10.  Galactosaemia.

Authors:  P T BRAY; R J ISAAC; A G WATKINS
Journal:  Arch Dis Child       Date:  1952-08       Impact factor: 3.791
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  10 in total

1.  ERYTHROCYTIC GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE LEVELS IN HEPATIC CIRRHOSIS.

Authors:  M M FISHER; S SPEAR; E SAMOLS; S SHERLOCK
Journal:  Gut       Date:  1964-04       Impact factor: 23.059

2.  TREATABLE MENTAL SUBNORMALITY.

Authors:  K C CHAUDHURI
Journal:  Indian J Pediatr       Date:  1963-10       Impact factor: 1.967

3.  Galactosemia.

Authors:  O N BHAKOO; B N WALIA; P I PAULOSE
Journal:  Indian J Pediatr       Date:  1963-03       Impact factor: 1.967

4.  [Relation between galactose and the crystalline lens].

Authors:  J Nordmann
Journal:  Doc Ophthalmol       Date:  1969       Impact factor: 2.379

Review 5.  Observations on galactosaemic families.

Authors:  P M Shah
Journal:  Indian J Pediatr       Date:  1965-12       Impact factor: 1.967

6.  [Polyphosphate nucleosides of crystallin. Their development during differentiation, aging and galactose overload].

Authors:  J Klethi
Journal:  Doc Ophthalmol       Date:  1970-12-21       Impact factor: 2.379

7.  UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.

Authors:  J D Russell; R DeMars
Journal:  Biochem Genet       Date:  1967-06       Impact factor: 1.890

8.  [Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations].

Authors:  J P Colombo; H Moser; S Rosin; R Richterich; E Rossi
Journal:  Klin Wochenschr       Date:  1965-10-15

9.  THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.

Authors:  A ROBINSON
Journal:  J Exp Med       Date:  1963-09-01       Impact factor: 14.307

10.  Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Authors:  Tat-Thanh Nguyen; Quang-Thanh Le; Diem-Tuyet Thi Hoang; Huu Du Nguyen; Thi Minh Thi Ha; My-Nhi Ba Nguyen; Thanh-Thuy Thi Ta; Nhat Thang Tran; Thu Huong Nhat Trinh; Kim Phuong Thi Doan; Duc Tam Lam; Son Tra Thi Tran; Thanh Xuan Nguyen; Hong-Thinh Le; Van Tuan Ha; Manh Hoan Nguyen; Ba-Liem Kim Le; My Linh Duong; Trung Ha Pham; Anh Tuan Tran; Xuan Lan Thi Phan; Thanh Liem Huynh; Lan-Phuong Thi Nguyen; Thanh Binh Vo; Duy-Khang Nguyen Le; Ngoc Nhu Thi Tran; Quynh Nhu Thi Tran; Yen-Linh Thi Van; Bich-Ngoc Thi Huynh; Thanh-Phương Thi Nguyen; Trang Thi Dao; Lan Phuong Thi Nguyen; Truong-Giang Vo; Thanh-Thuy Thi Do; Dinh-Kiet Truong; Hung Sang Tang; Minh-Duy Phan; Hoai-Nghia Nguyen; Hoa Giang
Journal:  Mol Genet Genomic Med       Date:  2022-05-03       Impact factor: 2.473
  10 in total

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